Pseudoachondroplasia due to the substitution of the highly conserved Asp482 by Gly in the seventh calmodulin-like repeat of cartilage oligomeric matrix protein.
Susic
S
S
Centre for the Study of Heritable Connective Tissue Diseases, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.
Ahier
J
J
Cole
W G
WG
D000130:Achondroplasia / Q000235:genetics*; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001224:Aspartic Acid; D001483:Base Sequence; D002147:Calmodulin / Q000235:genetics; D064236:Cartilage Oligomeric Matrix Protein; D017124:Conserved Sequence; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005998:Glycine; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D064235:Matrilin Proteins; D008875:Middle Aged; D008969:Molecular Sequence Data; D017354:Point Mutation; D012091:Repetitive Sequences, Nucleic Acid
D002147:Calmodulin; D064236:Cartilage Oligomeric Matrix Protein; D018076:DNA, Complementary; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C577553:TSP5 protein, human; D001224:Aspartic Acid; D005998:Glycine